Variant report

Variant	nsv536747
Chromosome Location	chr3:143513526-143547076
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:143531756..143533614-chr3:143541669..143543725,2	MCF-7	breast:
2	chr3:143534241..143536547-chr3:143539436..143542162,2	K562	blood:
3	chr3:143534241..143536547-chr3:143539436..143542162,2	K562	blood:
4	chr3:143514332..143514918-chr3:143670242..143670855,2	MCF-7	breast:
5	chr3:143540836..143543345-chr3:143547418..143549416,3	MCF-7	breast:
6	chr3:143531756..143533614-chr3:143541669..143543725,2	MCF-7	breast:

Extended variants
information (count: 1419 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1419 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568149002	chr3:143513529-143513530	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112247494	chr3:143513540-143513541	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141155865	chr3:143513571-143513572	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551275542	chr3:143513590-143513591	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569610102	chr3:143513603-143513604	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536238897	chr3:143513611-143513612	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547825321	chr3:143513679-143513680	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566469586	chr3:143513691-143513692	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144423685	chr3:143513707-143513708	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535253871	chr3:143513711-143513712	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199868844	chr3:143513802-143513803	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376927543	chr3:143513810-143513811	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371366645	chr3:143513830-143513831	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150706810	chr3:143513833-143513834	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375659735	chr3:143513850-143513851	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377682237	chr3:143513851-143513852	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147316144	chr3:143513857-143513858	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370975875	chr3:143513866-143513867	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138955013	chr3:143513884-143513885	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201948779	chr3:143513885-143513886	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149391262	chr3:143513889-143513890	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201860661	chr3:143513895-143513896	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574690108	chr3:143513934-143513935	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368051374	chr3:143513935-143513936	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs56969315	chr3:143513975-143513976	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs375144232	chr3:143514044-143514045	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113711021	chr3:143514136-143514137	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376576194	chr3:143514137-143514138	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561087888	chr3:143514140-143514141	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139034699	chr3:143514221-143514222	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11706302	chr3:143514237-143514238	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs565408200	chr3:143514242-143514243	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142617193	chr3:143514308-143514309	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77722228	chr3:143514310-143514311	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371570809	chr3:143514322-143514323	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145176566	chr3:143514345-143514346	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183311044	chr3:143514346-143514347	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563074823	chr3:143514386-143514387	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530287104	chr3:143514387-143514388	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371264099	chr3:143514401-143514402	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374457635	chr3:143514413-143514414	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74784378	chr3:143514427-143514428	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551839382	chr3:143514451-143514452	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570255269	chr3:143514465-143514466	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187997101	chr3:143514492-143514493	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555893571	chr3:143514496-143514497	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548085211	chr3:143514499-143514500	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192037195	chr3:143514501-143514502	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566424809	chr3:143514650-143514651	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535355769	chr3:143514654-143514655	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Adrenocortical carcinoma	18281524	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
Autism	22495309	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:563 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143494800-143515600	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr3:143494800-143515800	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr3:143505800-143513800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr3:143505800-143514800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr3:143505800-143514800	Weak transcription	Lung	lung
6	chr3:143505800-143515400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr3:143505800-143525800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:143506000-143514800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr3:143506000-143521200	Weak transcription	Primary B cells from peripheral blood	blood
10	chr3:143506400-143514400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr3:143506400-143514800	Weak transcription	Brain Substantia Nigra	brain
12	chr3:143506400-143515800	Weak transcription	Brain Hippocampus Middle	brain
13	chr3:143506600-143514600	Weak transcription	Brain Anterior Caudate	brain
14	chr3:143509800-143514800	Weak transcription	Esophagus	oesophagus
15	chr3:143510600-143515000	Weak transcription	Small Intestine	intestine
16	chr3:143510800-143513600	Weak transcription	Brain Angular Gyrus	brain
17	chr3:143510800-143514000	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr3:143511800-143513600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr3:143511800-143514400	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr3:143512000-143529200	Weak transcription	Primary B cells from cord blood	blood
21	chr3:143512400-143513800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:143512400-143513800	Enhancers	Colon Smooth Muscle	Colon
23	chr3:143512600-143513600	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr3:143512600-143513800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:143512600-143514000	Enhancers	Rectal Smooth Muscle	rectum
26	chr3:143512600-143515200	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr3:143512800-143513600	Enhancers	NHDF-Ad	bronchial
28	chr3:143512800-143514200	Strong transcription	Primary T cells from cord blood	blood
29	chr3:143512800-143514800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr3:143512800-143515800	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr3:143513000-143513600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr3:143513000-143514400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr3:143513000-143514600	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr3:143513200-143513600	Weak transcription	Fetal Stomach	stomach
35	chr3:143513200-143513800	Enhancers	Fetal Muscle Leg	muscle
36	chr3:143513200-143514400	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr3:143513400-143513600	Enhancers	HSMM	muscle
38	chr3:143513400-143513800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr3:143513400-143514600	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr3:143513400-143514800	Weak transcription	Fetal Lung	lung
41	chr3:143513400-143517400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr3:143513600-143513800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr3:143513600-143513800	Enhancers	Fetal Stomach	stomach
44	chr3:143513600-143514000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr3:143513600-143514200	Enhancers	HSMMtube	muscle
46	chr3:143513600-143516800	Weak transcription	HSMM	muscle
47	chr3:143513600-143533600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr3:143513800-143514200	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr3:143513800-143514800	Weak transcription	Colon Smooth Muscle	Colon
50	chr3:143513800-143515000	Strong transcription	Primary monocytes fromperipheralblood	blood

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